Linked Data
ClinVar Variation Id:
1517615
ClinVar RCV Id:
RCV002027483
dbSNP Id:
rs545419197
gnomAD v4:
9-6556164-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.6556164T>C , CM000671.2:g.6556164T>C | GRCh38 |
| NC_000009.11:g.6556164T>C , CM000671.1:g.6556164T>C | GRCh37 |
| NC_000009.10:g.6546164T>C | NCBI36 |
| NG_016397.1:g.94529A>G , LRG_643:g.94529A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321612.8:c.2191A>G MANE Select | ENSP00000370737.4:p.Met731Val | |
| ENST00000638233.1:n.626A>G | ||
| ENST00000638661.1:c.391A>G | ENSP00000491369.1:p.Met131Val | |
| ENST00000638694.1:n.378A>G | ||
| ENST00000639318.1:c.391A>G | ENSP00000491932.1:p.Met131Val | |
| ENST00000639364.1:n.1891A>G | ||
| ENST00000639443.1:n.1759A>G | ||
| ENST00000639954.1:n.1899A>G | ||
| ENST00000640505.1:n.430A>G | ||
| ENST00000321612.6:c.2191A>G | ENSP00000370737.3:p.Met731Val | |
| NM_000170.2:c.2191A>G , LRG_643t1:c.2191A>G | NP_000161.2:p.Met731Val | |
| NM_000170.3:c.2191A>G MANE Select | NP_000161.2:p.Met731Val |